关键词: Bainbridge-Ropers综合征；　ASXL3基因；　儿童

Abstract: 　Objective　To explore the clinical characteristics of Bainbridge-Ropers syndrome. Method　Clinical data and gene test results of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A girl aged 11 months had feeding difficulties, failure to thrive, developmental retardation, specific facial features (microcephaly, arched eyebrows, upslanting palpebral fissures, anteverted nares and low ear), ulnar deviation of the hands, and hypotonia of the four limbs. Genomic sequencing showed ASXL3 gene has a de novo heterozygous mutation, C. 3106 (exon 12) C > T, resulting in a protein change to P. (Arg1036*). Conclusion　Gene detection is helpful for the early diagnosis of Bainbridge-Ropers syndrome.

Key words: Bainbridge-Ropers syndrome;　ASXL3 gene;　child